Canonical Allele Identifier: CA1748893975

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342077C= , CM000669.2:g.143342077C=	GRCh38
NC_000007.13:g.143039170C= , CM000669.1:g.143039170C=	GRCh37
NC_000007.12:g.142749292C=	NCBI36
NG_009815.1:g.30952C=
NG_009815.2:g.30952C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1731C=	ENSP00000498052.2:p.Leu577=
ENST00000343257.7:c.1731C= MANE Select	ENSP00000339867.2:p.Leu577=
ENST00000432192.6:c.1555C=
ENST00000343257.6:c.1731C=	ENSP00000339867.2:p.Leu577=
NM_000083.2:c.1731C=	NP_000074.2:p.Leu577=
NR_046453.1:n.1671C=
XM_011515781.1:c.1755C=	XP_011514083.1:p.Leu585=
XM_011515782.1:c.477C=	XP_011514084.1:p.Leu159=
XM_011515782.2:c.477C=	XP_011514084.1:p.Leu159=
XM_017011739.1:c.1305C=	XP_016867228.1:p.Leu435=
XM_017011740.1:c.1281C=	XP_016867229.1:p.Leu427=
NM_000083.3:c.1731C= MANE Select	NP_000074.3:p.Leu577=
NR_046453.2:n.1686C=